Canonical Allele Identifier: CA3173058

Gene: SDHA

Linked Data

• ClinVar Variation Id: 252912
• ClinVar RCV Id: RCV000239369 ; RCV000567963 ; RCV000765830
• dbSNP Id: rs200526913
• ExAC: 5:233687 G / A
• gnomAD v2: 5-233687-G-A
• gnomAD v3: 5-233572-G-A
• gnomAD v4: 5-233572-G-A
• COSMIC: COSM284843
• MyVariant Identifiers: chr5:g.233687G>A (hg19) ; chr5:g.233572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.233572G>A , CM000667.2:g.233572G>A	GRCh38
NC_000005.9:g.233687G>A , CM000667.1:g.233687G>A	GRCh37
NC_000005.8:g.286687G>A	NCBI36
NG_012339.1:g.20332G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.991G>A MANE Select	ENSP00000264932.6:p.Ala331Thr
ENST00000651543.1:c.991G>A	ENSP00000499215.1:p.Ala331Thr
ENST00000264932.10:c.991G>A	ENSP00000264932.6:p.Ala331Thr
ENST00000504309.5:c.991G>A	ENSP00000426514.1:p.Ala331Thr
ENST00000504824.5:n.976G>A
ENST00000505555.5:n.1031G>A
ENST00000510361.5:c.847G>A	ENSP00000427703.1:p.Ala283Thr
ENST00000512962.5:n.154G>A
ENST00000514027.5:n.946G>A
ENST00000514233.1:n.501G>A
ENST00000515752.5:n.154G>A
ENST00000617470.4:c.556G>A	ENSP00000484230.1:p.Ala186Thr
NM_001294332.1:c.847G>A	NP_001281261.1:p.Ala283Thr
NM_004168.3:c.991G>A	NP_004159.2:p.Ala331Thr
XM_005248331.2:c.991G>A	XP_005248388.1:p.Ala331Thr
XM_011514072.1:c.991G>A	XP_011512374.1:p.Ala331Thr
XM_011514073.1:c.991G>A	XP_011512375.1:p.Ala331Thr
XR_925638.1:n.1124G>A
NM_001330758.1:c.991G>A	NP_001317687.1:p.Ala331Thr
XM_011514072.2:c.991G>A	XP_011512374.1:p.Ala331Thr
XM_011514073.2:c.991G>A	XP_011512375.1:p.Ala331Thr
XM_017009685.2:c.991G>A	XP_016865174.1:p.Ala331Thr
XM_024446143.1:c.847G>A	XP_024301911.1:p.Ala283Thr
XR_002956167.1:n.1038G>A
NM_004168.4:c.991G>A MANE Select	NP_004159.2:p.Ala331Thr
NM_001294332.2:c.847G>A	NP_001281261.1:p.Ala283Thr
NM_001330758.2:c.991G>A	NP_001317687.1:p.Ala331Thr